Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
|
|
6.
|
|
|
7.
|
|
|
8.
|
|
|
9.
|
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. [electronic resource] by
- Pollitt, Rebecca C
- Saraff, Vrinda
- Dalton, Ann
- Webb, Emma A
- Shaw, Nick J
- Sobey, Glenda J
- Mughal, M Zulf
- Hobson, Emma
- Ali, Farhan
- Bishop, Nicholas J
- Arundel, Paul
- Högler, Wolfgang
- Balasubramanian, Meena
Producer: 20171016
In:
American journal of medical genetics. Part A vol. 170
Availability: No items available.
|
|
10.
|
Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones. [electronic resource] by
- Webb, Emma A
- Elliott, Lucy
- Carlin, Dominic
- Wilson, Martin
- Hall, Kirsty
- Netherton, Jennifer
- Reed, Julie
- Barrett, Tim G
- Salwani, Vijay
- Clayden, Jon D
- Arlt, Wiebke
- Krone, Nils
- Peet, Andrew C
- Wood, Amanda G
Producer: 20181009
In:
The Journal of clinical endocrinology and metabolism vol. 103
Availability: No items available.
|
|
11.
|
Karyotype - Phenotype Associations in Patients with Turner Syndrome. [electronic resource] by
- Noordman, Iris D
- van der Velden, Janiëlle Aem
- Timmers, Henri Jlm
- Pienkowski, Catherine
- Köhler, Birgit
- Kempers, Marlies
- Reisch, Nicole
- Richter-Unruh, Annette
- Arlt, Wiebke
- Nordenström, Anna
- Webb, Emma A
- Roeleveld, Nel
- Claahsen-van der Grinten, Hedi L
Producer: 20190710
In:
Pediatric endocrinology reviews : PER vol. 16
Availability: No items available.
|
|
12.
|
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect. [electronic resource] by
- Webb, Emma A
- Balasubramanian, Meena
- Fratzl-Zelman, Nadja
- Cabral, Wayne A
- Titheradge, Hannah
- Alsaedi, Atif
- Saraff, Vrinda
- Vogt, Julie
- Cole, Trevor
- Stewart, Susan
- Crabtree, Nicola J
- Sargent, Brandi M
- Gamsjaeger, Sonja
- Paschalis, Eleftherios P
- Roschger, Paul
- Klaushofer, Klaus
- Shaw, Nick J
- Marini, Joan C
- Högler, Wolfgang
Producer: 20170911
In:
The Journal of clinical endocrinology and metabolism vol. 102
Availability: No items available.
|
|
13.
|
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta. [electronic resource] by
- Cabral, Wayne A
- Ishikawa, Masaki
- Garten, Matthias
- Makareeva, Elena N
- Sargent, Brandi M
- Weis, MaryAnn
- Barnes, Aileen M
- Webb, Emma A
- Shaw, Nicholas J
- Ala-Kokko, Leena
- Lacbawan, Felicitas L
- Högler, Wolfgang
- Leikin, Sergey
- Blank, Paul S
- Zimmerberg, Joshua
- Eyre, David R
- Yamada, Yoshihiko
- Marini, Joan C
Producer: 20170324
In:
PLoS genetics vol. 12
Availability: No items available.
|
|
14.
|
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. [electronic resource] by
- Webb, Emma A
- AlMutair, Angham
- Kelberman, Daniel
- Bacchelli, Chiara
- Chanudet, Estelle
- Lescai, Francesco
- Andoniadou, Cynthia L
- Banyan, Abdul
- Alsawaid, Al
- Alrifai, Muhammad T
- Alahmesh, Mohammed A
- Balwi, M
- Mousavy-Gharavy, Seyedeh N
- Lukovic, Biljana
- Burke, Derek
- McCabe, Mark J
- Kasia, Tessa
- Kleta, Robert
- Stupka, Elia
- Beales, Philip L
- Thompson, Dorothy A
- Chong, W Kling
- Alkuraya, Fowzan S
- Martinez-Barbera, Juan-Pedro
- Sowden, Jane C
- Dattani, Mehul T
Producer: 20131125
In:
Brain : a journal of neurology vol. 136
Availability: No items available.
|